POMK: Protein O-Mannose Kinase
A key enzyme in O-mannosylation of alpha-dystroglycan, associated with muscular dystrophy-dystroglycanopathy
Gene Information Card
| Symbol | POMK |
|---|---|
| Full Name | protein O-mannose kinase |
| Gene Type | protein coding |
| Chromosomal Location | 8p11.21 |
| NCBI Gene ID | 84197 ncbi.nlm.nih.gov/gene/84197 |
| Ensembl ID | ENSG00000185950 |
| UniProt ID | Q9H5K3 |
| OMIM ID | 615247 |
| HGNC ID | 26067 |
| Aliases | SGK196, C8orf38, FLJ20171 |
Description
POMK (protein O-mannose kinase) encodes a kinase that phosphorylates O-mannosyl glycans on alpha-dystroglycan, a critical step for the functional glycosylation required for extracellular matrix binding. Mutations in POMK cause muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A12 (MDDGA12) and type C12 (MDDGC12).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A12 | Loss-of-function mutations impair O-mannosylation of alpha-dystroglycan, disrupting laminin binding | OMIM #615247 |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C12 | Hypomorphic variants reduce kinase activity, leading to milder glycosylation defects | OMIM #616094 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 6.2 | Low |
| Heart | 4.8 | Low |
| Skeletal Muscle | 3.5 | Low |
| Liver | 2.1 | Not detected |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.3 | Moderate expression |
| HeLa | 6.7 | Low expression |
| K562 | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.265C>T (p.Arg89*) | Nonsense | Rare | Loss of function |
| c.286G>A (p.Gly96Arg) | Missense | Rare | Loss of function |
| c.494G>A (p.Arg165His) | Missense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish kinase activity, leading to hypoglycosylation of alpha-dystroglycan.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• O-mannosyl glycan biosynthesis (Reactome: R-HSA-5173105)
• Dystroglycan-related disorders (KEGG: hsa05206)
Protein Summary
POMK is a 416-amino acid protein kinase localized to the Golgi apparatus. It phosphorylates the O-mannose residue on alpha-dystroglycan, enabling binding to extracellular matrix proteins such as laminin. Defects in this phosphorylation cause a spectrum of muscular dystrophies with brain and eye involvement.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POMK Knockout HEK293 Cell Line | EDJ-KQ3084 | Human | 84197 | Details Get a Quote |
| POMK Knockout HCT 116 Cell Line | EDJ-KQ23011 | Human | 84197 | Details Get a Quote |
| POMK Knockout A-549 Cell Line | EDJ-KQ24387 | Human | 84197 | Details Get a Quote |
| POMK Knockout HeLa Cell Line | EDJ-KQ24389 | Human | 84197 | Details Get a Quote |
